Research Article

MDM2 Amplification and PI3KCA Mutation in a Case of Sclerosing Rhabdomyosarcoma

Figure 1

(a) MRI imaging. (b) Diagnostichistology of the tumor demonstrating round hyperchromatic to spindled cells surrounded by a densely hyalinized stroma. Hematoxylin-eosin, original magnification ×200. (c) Desmin immunohistochemical stain showing strong diffuse cytoplasmic expression of desmin. (d) Although sparse, individual cells demonstrated strong nuclear staining with myogenin. Myogenin immunohistochemical stain. (e) Several cells demonstrated strong nuclear staining with MDM2 immunohistochemical stain. (f) Representative G-banded karyogram demonstrating a complex abnormal hyperdiploid clone. These cells contained from 20 to 50 double minutes, shown by fluorescence in situ hybridization (FISH) to be amplification of the MDM2 gene. (g) Fluorescence in situ hybridization (FISH) with Zytovision MDM2 probe (green) and a 12 centromere probe as control (red) revealed a subset of interphase cells, as shown here, exhibiting multiple green signals confirming MDM2 amplification.
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